Researchers discover genetic code of rare kidney cancer

For the first time, the inherited characteristics of reninoma, a rare form of kidney cancer, have been investigated. Researchers from the Wellcome Sanger Institute, Great Ormond Street Hospital, and The Royal Free Hospital also identified a potential pharmacological target that may be used as an alternative to surgery in the new report.

The findings were published in Nature Communications.

Reninoma is one of the rarest cancers in humans, with just about 100 instances having been identified globally to date (1). Even though surgery can usually treat it, it can still spread and generate metastases or cause severe hypertension. Reninoma is currently managed only by surgery since there are no available medication treatments. It was unknown till now.

Researchers discovered that the development of this rare cancer is caused by a specific error in the genetic code of the cancer gene NOTCH1.

The team examined two cancer samples — from a young adult and a child (2) — with advanced genomic techniques, known as whole genome and single nuclear sequencing (3). Their findings suggest that the use of existing drugs targeting this specific gene is a possible solution to treating reninoma for patients where surgery is not a viable option.

Taryn Treger, first author of the study and The Little Princess Trust Fellow at the Wellcome Sanger Institute, said: “Many cancerous tumours have already been deciphered with genomic technologies, however, this is not so true in rare cancers, particularly those affecting children. Our work aims to fill that gap. This is the first time that we have identified the drivers for reninoma and we hope that our work continues to pave the way towards new therapies for childhood cancers.”

Dr Tanzina Chowdhury, co-lead author of the study, at Great Ormond Street Hospital, said: “Rare kidney cancers known as reninomas do not respond to conventional anti-cancer therapies. The only known treatment at the moment is surgery. Our study shows that, actually, there is a specific and well-studied gene that drives this rare cancer. If we use already known drugs that affect this gene, we might be able to treat it without the need for an invasive technique such as surgery.”

Dr Sam Behjati, co-lead author of the study, Wellcome Senior Research Fellow at the Wellcome Sanger Institute and Honorary Consultant Paediatric Oncologist at Addenbrooke’s Hospital, said: “Rare cancers are exceedingly challenging to study, and patients with such tumours may therefore not benefit from cancer research. Here, we have a powerful example of cutting-edge science rewriting our understanding of an ultra rare tumour type, reninoma, whilst delivering a finding that potentially has immediate clinical benefits for patients.”

Phil Brace, Chief Executive of The Little Princess Trust, said: “We are committed to funding research searching for more effective treatments for all childhood cancers and so we are delighted to hear of the discoveries that have been made. We also want to help researchers find kinder solutions for young people and so we are very pleased to hear there may be ways to treat this rare kidney cancer without the need for surgery.”